A Novel c.973G>T Mutation in the ε-subunit of the Acetylcholine Receptor Causing Congenital Myasthenic Syndrome in an Iranian Family.

Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G>T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G>T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin.

Hypoallergenic diet may control refractory epilepsy in allergic children: A quasi experimental study.

Recent data has suggested a definitive role for inflammatory processes in the pathophysiology of epilepsy. In this study we hypothesized that food allergies, as chronic inflammatory processes, underlie the pathophysiology of refractory idiopathic epilepsy and investigated whether food elimination diets may assist in managing refractory epilepsy. The study was conducted on 34 patients up to 16 years of age with refractory convulsions who attended the Allergy Outpatient Clinic, Mofid Children Hospital between 2015 and 2016 with youngest and oldest participants at ages of 3 months and 16 years old, respectively. The participants were categorized into three groups according to the results of skin prick test and serum specific IgE measurements. Elimination diets were instituted for the patients with non IgE-mediated and mixed food allergies. The study was conducted for a period of 12 weeks. The participants were assessed for at least 50% reduction in number of seizures following the intervention. There was a significant reduction in number of seizures (p < 0.001) following the intervention. Seventeen patients (50%) did not experience any seizures after 8 weeks of treatment and 12 patients (35%) had a significant (51-99%) decrease in the number of their seizures. Five patients did not show any changes in their daily seizure frequency. The obtained data suggest that food allergy may play a role in triggering refractory epilepsies and their adequate response to treatment. A trial of elimination diet showed more than 50% seizure reduction in more than 85% of the children studied. However, we believe these results are preliminary and they motivate a fully controlled study in the future.

Maternal and Fetal Outcomes in Iranian Patients with Systemic Lupus Erythematosus: A Five-Year Retrospective Study of 60 Pregnancies.

BACKGROUND: As a multisystem autoimmune disease, Systemic Lupus Erythematosus (SLE) mainly affects women during reproductive age. This retrospective study was designed to investigate the fetal and maternal outcomes of Iranian women with SLE. METHODS: Clinical and laboratory records of 60 pregnancies in 55 SLE patients who attended Hafez hospital, a tertiary referral center for high risk pregnancies and SLE patients affiliated with Shiraz University of Medical Science, were reviewed during April 2012 and March 2016. RESULTS: The mean age of the patients was 29.28±4.6 years and mean disease duration was 5.09±4.2 years. Live birth rate was 83.3% after exclusion of elective abortions. There were 50 live births, 3 neonatal deaths, 3 spontaneous abortions and 7 stillbirths. 9 (15%) women developed preeclampsia and there was 1 (1.6%) case of HELLP syndrome. Lupus flares occurred in 27 (45%) patients during pregnancy. Preterm delivery occurred in 11.6% of pregnancies. Skin and joints were the most frequently affected organs. Patients with previous lupus nephritis (n=18) were associated with a higher risk of maternal complication, but fetal outcomes were similar in both groups. Cesarean rate was about 66%, mostly related to fetal indications (50%). CONCLUSION: Pregnancies in most women with pre-existing SLE can now be managed with successful results although presence of previous lupus nephritis is still a major risk factor for adverse maternal outcomes. In our study, fetal outcome was not different between patients with lupus nephritis compared with the patients without nephritis who were under treatments. Hence, to achieve favorable long-term results, we recommend regular multispecialty treatment approaches and progestational counseling for women with SLE.

The management of dental waste in dental offices and clinics in Shiraz, Southern Iran.

BACKGROUND: Dental waste can be hazardous to humans and the environment. OBJECTIVE: To determine the current status of dental waste management in private and public dental clinics and private dental offices in Shiraz, southern Iran. METHODS: This cross-sectional study was conducted at the Shiraz University of Medical Sciences from February through June 2013. A stratified random sampling method was used to study 86 private offices, 14 private clinics and 10 public clinics. Types of waste studied included mercury and amalgam, lead foil packets, sharps, infectious tissues and fluids, pharmaceuticals and domestic waste materials. Compliance with established standards by the monitored dental offices and clinics and public clinics were compared. RESULTS: 89.1% of dental offices and clinics disposed their infectious waste with domestic waste. Only 60% of centers used standard method for sharps disposal. None of the dental centers disposed their pharmaceutical waste and x-ray fixer waste by standard methods. Less than 10% of centers recycled the amalgam and lead foil pockets waste to the manufacture. CONCLUSION: Government agencies should establish monitoring programs for all dental offices and clinics to identify noncompliant activity and enforce recommended regulations.

Efficacy of levetiracetam in children with refractory epilepsy as an add-on trial.

BACKGROUND: Epilepsy is a common disease of childhood, in which almost 25% of cases are resistant to common antiepileptic drugs. Uncontrolled epilepsy increases morbidity and mortality rates, adversely affects growth and development in these children and imposes heavy psychological stress and financial burdens on parents, health care and society, making it mandatory to find effective therapies for the condition. Our aim was to study the efficacy of levetiracetam, as an add-on therapy, in children suffering from refractory epilepsy. MATERIALS AND METHODS: In this prospective add-on study, 45 children aged 0.6-15 years (median 5.9 years) with epilepsy not responding to most conventional or new antiepileptic drugs were treated by adding levetiracetam to their present antiepileptic regimen and followed for a minimum period of 12 weeks. The starting dose of 20mg/kg/day was increased at intervals of 1 week by 10mg/kg/day, if necessary, up to a maximum dose of 60mg/kg/day. RESULTS: Four children (8.7%) became seizure free, in 4 (8.7%), seizure frequency increased, and in 8 (17.4%) and 13 (28.3%) patients, seizure frequency decreased by 75-99% and 50-74% respectively. Overall levetiracetam was effective in 54.3% of patients, decreasing seizure frequency to at least 50% of baseline seizure frequency. Variables such as sex, age, duration of disease, type and cause of seizure, EEG and imaging data, also type of epileptic syndrome showed no statistically significant correlations with these results. CONCLUSION: Levetiracetam can be used as an effective add-on treatment in children with refractory epilepsy.